PMC Articles for MedGen (Select 868264) - PMC

Select item 66173841.

A novel pathogenic m.4412G>A MT-TM mitochondrial DNA variant associated with childhood-onset seizures, myopathy and bilateral basal ganglia changes

Albert Z. Lim, Emma L. Blakely, Karen Baty, Langping He, Sila Hopton, Gavin Falkous, Kenneth McWilliam, Alison Cozens, Robert McFarland, Robert W. Taylor

Mitochondrion. 2019 Jul; 47: 18–23. doi: 10.1016/j.mito.2019.04.007

PMCID:: PMC6617384

Abstract Article

Select item 62475942.

Clinical, Neuroimaging, and Pathological Analyses of 13 Chinese Leigh Syndrome Patients with Mitochondrial DNA Mutations

Xiao-Lin Yu, Chuan-Zhu Yan, Kun-Qian Ji, Peng-Fei Lin, Xue-Bi Xu, Ting-Jun Dai, Wei Li, Yu-Ying Zhao

Chin Med J (Engl) 2018 Nov 20; 131(22): 2705–2712. doi: 10.4103/0366-6999.245265

PMCID:: PMC6247594

Abstract Article PDF–764K

Select item 57057403.

Novel GFM2 variants associated with early-onset neurological presentations of mitochondrial disease and impaired expression of OXPHOS subunits

Ruth I. C. Glasgow, Kyle Thompson, Inês A. Barbosa, Langping He, Charlotte L. Alston, Charu Deshpande, Michael A. Simpson, Andrew A. M. Morris, Axel Neu, Ulrike Löbel, Julie Hall, Holger Prokisch, Tobias B. Haack, Maja Hempel, Robert McFarland, Robert W. Taylor

Neurogenetics. 2017; 18(4): 227–235. Published online 2017 Oct 26. doi: 10.1007/s10048-017-0526-4

PMCID:: PMC5705740

Abstract Article PDF–3.2M

Select item 34395024.

GLUT1 deficiency syndrome as a cause of encephalopathy that includes cognitive disability, treatment-resistant infantile epilepsy and a complex movement disorder

John M. Graham, Jr.

Eur J Med Genet. Author manuscript; available in PMC 2013 May 1.

Published in final edited form as: Eur J Med Genet. 2012 May; 55(5): 332–334. Published online 2011 Dec 20. doi: 10.1016/j.ejmg.2011.11.009

PMCID:: PMC3439502

Abstract Article PDF–31K

Select item 21696795.

Late onset familial dystonia: could mitochondrial deficits induce a diffuse lesioning process of the whole basal ganglia system?

D Caparros-Lefebvre, A Destee, H Petit

J Neurol Neurosurg Psychiatry. 1997 Aug; 63(2): 196–203. doi: 10.1136/jnnp.63.2.196

PMCID:: PMC2169679

Summary PDF–249K

PMC

Result Filters

Article attributes

Text availability

Publication date

Custom date range

Research Funder

Additional filters

Display Settings:

Send to:

Links from MedGen

Items: 5

Display Settings:

Send to:

Supplemental Content

Find related data

Recent activity